Hi All,
First Off, thank you for your continued thoughts and prayers! Your support has meant the world to us during this difficult time!
Friday morning we had a meeting with the Genetic Counselor and Doctor. We had a great conversation about Ava's condition and what that means for our future. Although they are still running some tests, they were confident enough to tell us that they believe Ava had something called MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency...Phew!) Essentially, this means that Ava was missing an enzyme and could not break down fat, either from food or fats already stored in the body, to produce energy. Alternately, her body would have used Glucose to produce energy, but as birth is a stressful event and she needed to produce more energy to compensate, she didn't have enough Glucose to keep up. This therefore caused a stall in her metabolic process, causing the buildup of fat in the liver (leading to her heart issues), and the buildup of Ammonia (toxic to the brain, possibly causing the seizures). Being unaware of her condition, by the time Ava was showing the major symptoms, it was too late to catch and reverse the effects that lead to her death.
Now, a little about MCADD.
-It is a rare disorder (rare to a regular Doctor; becoming more common to a Genetics Dr.)
-It usually presents itself between 3-24 months. (Ava's case was quite accelerated, the test results weren't even back yet)
-Usually presents itself in high stress situations, ie. birth, illness, fasting etc.
For Ava to have gotten this disorder, Joel and I each would have passed on a "Non-Working Gene". Assuming that Joel and I are both "Carriers" (asymptomatic), we had 4 possibilities to pass on - a 1 in 4 (25%) chance of having a baby that was "Affected" (Like Ava) (See Diagram)
We also discussed Joel and his early childhood experiences with Hypoglycemia. Although we just submit for bloodwork testing, the Doctor has a strong sense that Joel is also Affected, undiagnosed. Referring back to the diagram, we now cannot have an "Unaffected" child because Joel would always pass on a "Non-Working Gene". It would depend on whether I pass on a "Working" or "Non-Working Gene", creating either a baby who's a Carrier or Affected. This now gives us a 1 in 2 (50%) chance of having an Affected baby. Now please, before you think the worst....the outlook is positive!! The Doctor is quite positive about our future because we now know what we are dealing with and this information will give us the opportunity to properly diagnose, treat and manage this disorder. Any future children we may have will be treated as if they are Affected, until they do testing to see if they indeed are Affected or just Carriers. This means hooking them up to an IV with Glucose and possibly Carnitine (natural chemical to help remove some breakdown products of fat), and constant monitoring of their levels (such as Ammonia). If tests come back as positive for Affected, the IV would stay in place until regular feedings are established, preventing Hypoglycemia (Low Blood Sugar).
If you are like me, I had some trouble seeing past the 50% chance of us having an Affected child again. I could only think of Affected as "Ava" (Death). But now assuming Joel is also Affected, I can look at Affected in a different way (LIFE!) Joel leads a perfectly healthy life and at this point, the only interference is that he needs to eat often/never go without food. Through her death, Ava has truly given us a great gift - INFORMATION! She has saved Joel and any other children from the same outcome, if treated properly.
We are feeling very positive about the meeting and about our future. We are so fortunate to have the full support of the Genetic Doctor, with whom we met. We praise God for answered prayer as well as continued comfort and strength! We know He has great plans for our future and look forward His unveiling!
In Him,
Joel and April
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